R8L (p.Arg8Leu) variant of PKD1 (Polycystin-1)
R8L (p.Arg8Leu) in PKD1 (Polycystin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
R8L (p.Arg8Leu) variant details
- p.Arg8Leu
- TOPMed rs1366403752
- Missense
- Variant Prioritization Score for Impact Estimate 0.2
- REVEL 0.02
- MetaLR 0.03
- MetaSVM -0.99
- CADD 22.60
- PolyPhen-2 0.00
- SIFT 0.36
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available